About Us

The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh is focused on treating patients who are diagnosed with the following groups of inherited metabolic disorders and their related diseases:

• Inborn Errors of Protein Metabolism
• Inborn Errors of Immunity
• Inborn Errors of Lysosomal Metabolism
• Inborn Errors of Energy Metabolism
• Inborn Errors of Bile Formation

The Center for Rare Disease Therapy at UPMC Children’s is among 40 centers nationwide named a National Organization of Rare Diseases (NORD) Center of Excellence. The establishment of this network of centers, clinics, and institutions will advance care and expand access for rare disease patients. The program is being led by NORD to promote outstanding treatment for rare disease patients regardless of disease or geography, elevate collaboration, improve standards of care, advance research, and increase awareness about rare diseases in the broader medical and patient communities. Read more.

Innovations in Gene Therapy for Rare Disease Treatment

A new "That's Pediatrics" podcast episode features Jerry Vockley, MD, PhD, director of the CRDT and chief of Medical Genetics Division at Children's.

Listen to the episode

Therapies of Today and Tomorrow

• Children’s is a leading international center for liver transplantation as a cure or treatment for metabolic disease, having transplanted more patients with metabolic disease than any other center, including adult facilities
• Children’s treats different rare diseases with bone marrow transplant when appropriate
• Innovative surgical techniques to improve the quality of life for children with rare disease such as cutting edge corneal transplants
• Children’s is one of a few centers in the world that offers total pancreatectomy with islet cell autotransplant for children with chronic pancreatitis
• Utilizing reduced-toxicity/intensity in unrelated donor, cord blood transplantation for inborn errors
• Exceptional medical management of metabolic patients leading to better outcomes and successful transplantation when warranted
• Approved and experimental enzyme replacement therapies for inborn errors of metabolism
• Food and Drug Administration (FDA)-approved clinical trials for novel therapies for fatty acid oxidation disorders
• Stem cell transplantation trial for children and young adults to treat refractory Crohn’s disease
• Hepatocyte transplantation therapy for inborn errors of metabolism including urea cycle disorders and PKU, and acute hepatic failure in patients with metabolic disorders
• NIH-funded study to test the possibility that the commonly used mood-stabilizer, Carbamazepine, can reverse liver disease due to alpha-1-antitrypsin deficiency
• FDA-approved study of sequential lung and bone marrow transplantation from the same cadaveric donor
• Groundbreaking transplant research, including advances in immunosuppression withdrawal or minimization, transplant tolerance, and optimizing long-term transplant outcomes